Linked Data
ClinVar Variation Id:
161572
ClinVar RCV Id:
RCV000149107
dbSNP Id:
rs193920991
ExAC:
10:108339001 G / A
gnomAD v2:
10-108339001-G-A
gnomAD v3:
10-106579243-G-A
gnomAD v4:
10-106579243-G-A
COSMIC:
COSM1178767
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.106579243G>A , CM000672.2:g.106579243G>A | GRCh38 |
| NC_000010.10:g.108339001G>A , CM000672.1:g.108339001G>A | GRCh37 |
| NC_000010.9:g.108328991G>A | NCBI36 |
| NG_029120.1:g.590466C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369698.6:c.2112C>T | ||
| ENST00000263054.11:c.3371+126C>T MANE Select | ENSP00000263054.5:n.3371+126C>T | |
| ENST00000263054.10:c.3371+126C>T | ENSP00000263054.5:n.3371+126C>T | |
| ENST00000344440.7:c.2654C>T | ENSP00000345964.7:p.Pro885Leu | |
| ENST00000369698.5:c.1985C>T | ENSP00000358712.1:p.Pro662Leu | |
| ENST00000452214.5:c.424C>T | ||
| ENST00000473866.1:n.268C>T | ||
| ENST00000612154.4:c.2654C>T | ENSP00000478065.1:p.Pro885Leu | |
| ENST00000622431.4:c.2645+126C>T | ENSP00000477888.1:n.2645+126C>T | |
| NM_001013031.2:c.3380C>T | NP_001013049.1:p.Pro1127Leu | |
| NM_001206569.1:c.3380C>T | NP_001193498.1:p.Pro1127Leu | |
| NM_001206570.1:c.3371+126C>T | NP_001193499.1:n.3371+126C>T | |
| NM_001206571.1:c.*17C>T | NP_001193500.1:n.*17C>T | |
| NM_001206572.1:c.3380C>T | NP_001193501.1:p.Pro1127Leu | |
| NM_052918.4:c.3371+126C>T | NP_443150.3:n.3371+126C>T | |
| XM_011539199.1:c.3380C>T | XP_011537501.1:p.Pro1127Leu | |
| XM_011539200.1:c.3248C>T | XP_011537502.1:p.Pro1083Leu | |
| XM_011539202.1:c.2864C>T | XP_011537504.1:p.Pro955Leu | |
| XM_011539203.1:c.2831C>T | XP_011537505.1:p.Pro944Leu | |
| XM_011539204.1:c.2825C>T | XP_011537506.1:p.Pro942Leu | |
| XM_011539205.1:c.2765C>T | XP_011537507.1:p.Pro922Leu | |
| XM_011539207.1:c.1949C>T | XP_011537509.1:p.Pro650Leu | |
| XM_011539199.3:c.3380C>T | XP_011537501.1:p.Pro1127Leu | |
| XM_017015614.2:c.3380C>T | XP_016871103.1:p.Pro1127Leu | |
| XM_017015615.2:c.3248C>T | XP_016871104.1:p.Pro1083Leu | |
| XM_017015616.1:c.2864C>T | XP_016871105.1:p.Pro955Leu | |
| XM_017015617.1:c.2825C>T | XP_016871106.1:p.Pro942Leu | |
| XM_017015618.1:c.1949C>T | XP_016871107.1:p.Pro650Leu | |
| NM_001013031.3:c.3380C>T | NP_001013049.1:p.Pro1127Leu | |
| NM_001206569.2:c.3380C>T | NP_001193498.1:p.Pro1127Leu | |
| NM_001206570.2:c.3371+126C>T | NP_001193499.1:n.3371+126C>T | |
| NM_001206571.2:c.*17C>T | NP_001193500.1:n.*17C>T | |
| NM_001206572.2:c.3380C>T | NP_001193501.1:p.Pro1127Leu | |
| NM_052918.5:c.3371+126C>T MANE Select | NP_443150.3:n.3371+126C>T | |
| NM_001387556.1:c.3380C>T | NP_001374485.1:p.Pro1127Leu |